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The Clinical Impact of Chromosomal Microarray on Paediatric Care in Hong Kong
OBJECTIVE: To evaluate the clinical impact of chromosomal microarray (CMA) on the management of paediatric patients in Hong Kong. METHODS: We performed NimbleGen 135k oligonucleotide array on 327 children with intellectual disability (ID)/developmental delay (DD), autism spectrum disorders (ASD), an...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4198120/ https://www.ncbi.nlm.nih.gov/pubmed/25333781 http://dx.doi.org/10.1371/journal.pone.0109629 |
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author | Tao, Victoria Q. Chan, Kelvin Y. K. Chu, Yoyo W. Y. Mok, Gary T. K. Tan, Tiong Y. Yang, Wanling Lee, So Lun Tang, Wing Fai Tso, Winnie W. Y. Lau, Elizabeth T. Kan, Anita S. Y. Tang, Mary H. Lau, Yu-lung Chung, Brian H. Y. |
author_facet | Tao, Victoria Q. Chan, Kelvin Y. K. Chu, Yoyo W. Y. Mok, Gary T. K. Tan, Tiong Y. Yang, Wanling Lee, So Lun Tang, Wing Fai Tso, Winnie W. Y. Lau, Elizabeth T. Kan, Anita S. Y. Tang, Mary H. Lau, Yu-lung Chung, Brian H. Y. |
author_sort | Tao, Victoria Q. |
collection | PubMed |
description | OBJECTIVE: To evaluate the clinical impact of chromosomal microarray (CMA) on the management of paediatric patients in Hong Kong. METHODS: We performed NimbleGen 135k oligonucleotide array on 327 children with intellectual disability (ID)/developmental delay (DD), autism spectrum disorders (ASD), and/or multiple congenital anomalies (MCAs) in a university-affiliated paediatric unit from January 2011 to May 2013. The medical records of patients were reviewed in September 2013, focusing on the pathogenic/likely pathogenic CMA findings and their “clinical actionability” based on established criteria. RESULTS: Thirty-seven patients were reported to have pathogenic/likely pathogenic results, while 40 had findings of unknown significance. This gives a detection rate of 11% for clinically significant (pathogenic/likely pathogenic) findings. The significant findings have prompted clinical actions in 28 out of 37 patients (75.7%), while the findings with unknown significance have led to further management recommendation in only 1 patient (p<0.001). Nineteen out of the 28 management recommendations are “evidence-based” on either practice guidelines endorsed by a professional society (n = 9, Level 1) or peer-reviewed publications making medical management recommendation (n = 10, Level 2). CMA results impact medical management by precipitating referral to a specialist (n = 24); diagnostic testing (n = 25), surveillance of complications (n = 19), interventional procedure (n = 7), medication (n = 15) or lifestyle modification (n = 12). CONCLUSION: The application of CMA in children with ID/DD, ASD, and/or MCAs in Hong Kong results in a diagnostic yield of ∼11% for pathogenic/likely pathogenic results. Importantly the yield for clinically actionable results is 8.6%. We advocate using diagnostic yield of clinically actionable results to evaluate CMA as it provides information of both clinical validity and clinical utility. Furthermore, it incorporates evidence-based medicine into the practice of genomic medicine. The same framework can be applied to other genomic testing strategies enabled by next-generation sequencing. |
format | Online Article Text |
id | pubmed-4198120 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-41981202014-10-21 The Clinical Impact of Chromosomal Microarray on Paediatric Care in Hong Kong Tao, Victoria Q. Chan, Kelvin Y. K. Chu, Yoyo W. Y. Mok, Gary T. K. Tan, Tiong Y. Yang, Wanling Lee, So Lun Tang, Wing Fai Tso, Winnie W. Y. Lau, Elizabeth T. Kan, Anita S. Y. Tang, Mary H. Lau, Yu-lung Chung, Brian H. Y. PLoS One Research Article OBJECTIVE: To evaluate the clinical impact of chromosomal microarray (CMA) on the management of paediatric patients in Hong Kong. METHODS: We performed NimbleGen 135k oligonucleotide array on 327 children with intellectual disability (ID)/developmental delay (DD), autism spectrum disorders (ASD), and/or multiple congenital anomalies (MCAs) in a university-affiliated paediatric unit from January 2011 to May 2013. The medical records of patients were reviewed in September 2013, focusing on the pathogenic/likely pathogenic CMA findings and their “clinical actionability” based on established criteria. RESULTS: Thirty-seven patients were reported to have pathogenic/likely pathogenic results, while 40 had findings of unknown significance. This gives a detection rate of 11% for clinically significant (pathogenic/likely pathogenic) findings. The significant findings have prompted clinical actions in 28 out of 37 patients (75.7%), while the findings with unknown significance have led to further management recommendation in only 1 patient (p<0.001). Nineteen out of the 28 management recommendations are “evidence-based” on either practice guidelines endorsed by a professional society (n = 9, Level 1) or peer-reviewed publications making medical management recommendation (n = 10, Level 2). CMA results impact medical management by precipitating referral to a specialist (n = 24); diagnostic testing (n = 25), surveillance of complications (n = 19), interventional procedure (n = 7), medication (n = 15) or lifestyle modification (n = 12). CONCLUSION: The application of CMA in children with ID/DD, ASD, and/or MCAs in Hong Kong results in a diagnostic yield of ∼11% for pathogenic/likely pathogenic results. Importantly the yield for clinically actionable results is 8.6%. We advocate using diagnostic yield of clinically actionable results to evaluate CMA as it provides information of both clinical validity and clinical utility. Furthermore, it incorporates evidence-based medicine into the practice of genomic medicine. The same framework can be applied to other genomic testing strategies enabled by next-generation sequencing. Public Library of Science 2014-10-15 /pmc/articles/PMC4198120/ /pubmed/25333781 http://dx.doi.org/10.1371/journal.pone.0109629 Text en © 2014 Tao et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited. |
spellingShingle | Research Article Tao, Victoria Q. Chan, Kelvin Y. K. Chu, Yoyo W. Y. Mok, Gary T. K. Tan, Tiong Y. Yang, Wanling Lee, So Lun Tang, Wing Fai Tso, Winnie W. Y. Lau, Elizabeth T. Kan, Anita S. Y. Tang, Mary H. Lau, Yu-lung Chung, Brian H. Y. The Clinical Impact of Chromosomal Microarray on Paediatric Care in Hong Kong |
title | The Clinical Impact of Chromosomal Microarray on Paediatric Care in Hong Kong |
title_full | The Clinical Impact of Chromosomal Microarray on Paediatric Care in Hong Kong |
title_fullStr | The Clinical Impact of Chromosomal Microarray on Paediatric Care in Hong Kong |
title_full_unstemmed | The Clinical Impact of Chromosomal Microarray on Paediatric Care in Hong Kong |
title_short | The Clinical Impact of Chromosomal Microarray on Paediatric Care in Hong Kong |
title_sort | clinical impact of chromosomal microarray on paediatric care in hong kong |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4198120/ https://www.ncbi.nlm.nih.gov/pubmed/25333781 http://dx.doi.org/10.1371/journal.pone.0109629 |
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